Heterozygous variants in NOTCH2 in a cohort of juvenile and adult patients with cholestatic liver disease: Disease modifiers or innocent bystanders?

R. Liebe; A. Stalke; H H Schmidt; F. Lammert; M. Krawczyk

doi:10.3205/26vzmnrw124

June 18, 2026Open Access

Heterozygous variants in NOTCH2 in a cohort of juvenile and adult patients with cholestatic liver disease: Disease modifiers or innocent bystanders?

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Key Points

This research aims to determine the impact of heterozygous variants in the NOTCH2 gene on cholestatic liver disease.
Analysis of genetic variants using next-generation sequencing (NGS) in juvenile and adult cohorts.
Assessment of treatment responses to IBAT inhibitors for cholestatic liver diseases.
Identification of heterozygous NOTCH2 variants in patients with cholestatic liver disease.
Evidence suggesting these variants may influence disease progression and treatment response.

Abstract

Background and objective: Genetic cholestatic liver diseases are increasingly stratified using NGS. The resulting information can guide treatment with novel drugs such as IBAT inhibitors, which have demonstrated efficacy in congenital liver disorders including Alagille syndrome and PFIC. We hypothesised [for full text, please go to the a.m. URL]

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Liebe et al. (2026) studied this question.

synapsesocial.com/papers/6a363274db0793dc1a539162 https://doi.org/10.3205/26vzmnrw124

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Heterozygous variants in NOTCH2 in a cohort of juvenile and adult patients with cholestatic liver disease: Disease modifiers or innocent bystanders?

Key Points

Abstract

Discussion

Cite This Study

Heterozygous variants in NOTCH2 in a cohort of juvenile and adult patients with cholestatic liver disease: Disease modifiers or innocent bystanders?

Key Points

Abstract

Discussion

Cite This Study

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